Hereditary ataxia

Gene: SPTBN2

Please see comments from Alisdair Mcneill. I have discussed this with the Genomics England Clinical team, and the decision was made to keep this gene as Green with 'both' as the mode of inheritance as there are sufficient cases reported for dominant inheritance, however interpretation of a single missense variant in this gene requires caution and verification of segregation.

Created: 13 Aug 2018, 4:15 p.m.

Red List (low evidence)

a note of caution; I have seen 2 families in clinical practice with dominant inheritance of ataxia - proband found to have an SPTBN2 variant and called SCA5, subsequently these missense variants did not segregate. I am a now uncertain if this is a genuine dominant ataxia gene or not and might suggest some caution in reporting...

Created: 15 Apr 2018, 9:16 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Comment when marking as ready: Good evidence from OMIM and expert review

Created: 2 Feb 2016, 10:05 a.m.

Green List (high evidence)

Fine. Loads of evidence in lit. Mode of inheritance: AD/AR (AD may be Dominant Negative)

Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia 5; Spinocerebellar ataxia, autosomal recessive 14; Spinocerebellar Ataxia, Dominant; SPINOCEREBELLAR ATAXIA 5 (autosomal dominant); SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14

Variants in this GENE are reported as part of current diagnostic practice